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Microarray as a first genetic test in global developmental delay: a cost‐effectiveness analysis
Author(s) -
TRAKADIS YANNIS,
SHEVELL MICHAEL
Publication year - 2011
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2011.04080.x
Subject(s) - confidence interval , comparative genomic hybridization , medicine , microarray , genetic testing , cost effectiveness , oncology , biology , genetics , chromosome , gene expression , risk analysis (engineering) , gene
Aim Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with array‐based comparative genomic hybridization (aCGH) would have on the total cost of the workup for GDD. Method We evaluated the cost‐effectiveness of aCGH compared with karyotyping by retrospectively analysing the cost of workup in a cohort of 114 children (69 males; 45 females) representing a consecutive series of children diagnosed with GDD. Results The average increase in cost if aCGH had been performed instead of karyotyping as a first test was $442 per individual when performed by a private company (98% confidence interval $238–604). In contrast, $106 (98% confidence interval −$17 to $195) would have been saved if aCGH was performed locally in a laboratory already possessing the required technology. The incremental cost per additional diagnosis was estimated to be $12 874 if aCGH was performed in a private laboratory, but <$1379 if performed locally. (Costs reported in Canadian dollars, using 2010 prices.) Interpretation aCGH would be cost‐effective as a first genetic test in the clinical evaluation of individuals with GDD.